GM1 gangliosidosis: phenotypic variation in a single family.
Infantile, juvenile, and adult forms of GM1 gangliosidosis have been well characterized. Certain genetic and biochemical studies have suggested that the phenotypic variation found in GM1 gangliosidosis results from different allelic mutations affecting the GM1 ganglioside beta-galactosidase locus and that different combinations of these mutations accounts for the clinical heterogeneity of this illness. A family in which both the infantile and juvenile forms of GM1 gangliosidosis occurred, the children sharing a common mutation of their acid beta-galactosidase activity, supports the allelic nature of these different clinical forms of the disease. From the observations made in this unique family, additional phenotypes of GM1 gangliosidosis might be anticipated.
D000483:Alleles; D005260:Female; D005677:G(M1) Ganglioside / Q000378:metabolism*; D005732:Gangliosides / Q000378:metabolism*; D005733:Gangliosidoses / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D001616:beta-Galactosidase / Q000235:genetics / Q000378:metabolism
D005732:Gangliosides; D005677:G(M1) Ganglioside; D001616:beta-Galactosidase